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SLC12: The electroneutral cation-Cl cotransporter
family
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Human Gene
Name
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Protein
Name
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Aliases
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Predominant Substrates
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Transport type /Coupling ions *)
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Tissue distribution and cellular/ subcellular expression
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Link to disease #)
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Human gene
locus
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Sequence
Accession
ID
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Splice variants and their specific features
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SLC12A1
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NKCC2
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BSC1
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Sodium,
Potassium,
Chloride
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C / Na+/K+/2Cl-
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Kidney-specific:
apical membrane of the thick ascending limb
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G: Bartter syndrome type I
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15q21.1
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NM_000338
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1) Isoforms A, B, F. Differ in ion affinities and exhibit
axial expression along TAL.
2) A shorter C-terminal isoform encodes a Na+:Cl-
cotransporter.
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SLC12A2
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NKCC1
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BSC2
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Sodium,
Potassium,
Chloride
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C / Na+/K+/2Cl-
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Ubiquitous: basolateral membrane of epithelial cells. Also
in non-epithelial cells.
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None
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5q23.3
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NM_001046
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A shorter C-terminal isoforms due to absence of exon 21.
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SLC12A3
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NCC
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TSC
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Sodium,
Chloride
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C / Na+/Cl-
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Kidney-specific: apical membrane of the distal convoluted
tubule; bone ?
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G: Gitelman’s syndrome
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16q13
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NM_000339
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SLC12A4
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KCC1
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Potassium,
Chloride
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C / K+/Cl-
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Ubiquitous
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None
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16q22
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NM_005072
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SLC12A5
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KCC2
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Potassium,
Chloride
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C / K+/Cl-
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Neuron-specific
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None
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20q13
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NM_020708
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SLC12A6
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KCC3
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Potassium,
Chloride
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C / K+/Cl-
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Widespread
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ACCPN
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15q14
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NM_005135
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Two N-terminal variants, generated by different first coding
exons
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SLC12A7
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KCC4
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Potassium,
Chloride
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C / K+/Cl-
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Widespread, minimal in brain
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5p15
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NM_006598
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SLC12A8
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CCC9
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Unknown
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Unknown
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Widespread
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3q21
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NM_024628
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SLC12A9
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CIP
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Unknown
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Unknown
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Widespread
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7q22
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NM_020246
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*)
C: Cotransporter
E: Exchanger
F: Facilitated transporter
O: Orphan transporter
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#)
A: Acquired defect
G: Genetic defect
P: Pseudogene
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